BRCA2 c.7007G>C ;(p.R2336P)

Variant ID: 13-32921033-G-C

NM_000059.3(BRCA2):c.7007G>C;(p.R2336P)

This variant was identified in 52 publications

View GRCh38 version.




Publications:


Spectrum of High-Risk Mutations among Breast Cancer Patients Referred for Multigene Panel Testing in a Romanian Population.

Cancers
Goidescu, Iulian Gabriel IG; Nemeti, Georgiana G; Surcel, Mihai M; Caracostea, Gabriela G; Florian, Andreea Roxana AR; Cruciat, Gheorghe G; Staicu, Adelina A; Muresan, Daniel D; Goidescu, Cerasela C; Pintican, Roxana R; Eniu, Dan Tudor DT
Publication Date: 2023-03-22

Variant appearance in text: BRCA2: 7007G>C
PubMed Link: 36980780
Variant Present in the following documents:
  • cancers-15-01895.pdf
View BVdb publication page



Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: N/A
PubMed Link: 36922933
Variant Present in the following documents:
View BVdb publication page



Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics
Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB
Publication Date: 2023

Variant appearance in text: BRCA2: R2336P
PubMed Link: 36896237
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Medrxiv : The Preprint Server For Health Sciences
Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB
Publication Date: 2023-02-26

Variant appearance in text: BRCA2: 7007G>C
PubMed Link: 36865205
Variant Present in the following documents:
  • media-10.xlsx, sheet 1
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: BRCA2: 7007G>C; Arg2336Pro
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.

Plos One
Rao, Nandana D ND; Shirts, Brian H BH
Publication Date: 2023

Variant appearance in text: BRCA2: 7007G>C
PubMed Link: 36753473
Variant Present in the following documents:
  • pone.0278010.s002.xlsx, sheet 1
View BVdb publication page



Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics
G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A
Publication Date: 2022

Variant appearance in text: rs28897743
PubMed Link: 36561320
Variant Present in the following documents:
  • Table2.xlsx, sheet 3
View BVdb publication page



Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

International Journal Of Cancer
Qin, Zixin Z; Li, Jiaheng J; Tam, Benjamin B; Sinha, Siddharth S; Zhao, Bojin B; Bhaskaran, Shanmuga Priya SP; Huang, Teng T; Wu, Xiaobing X; Chian, Jia Sheng JS; Guo, Maoni M; Kou, Si Hoi SH; Lei, Huijun H; Zhang, Li L; Wang, Xiaoyu X; Lagniton, Philip Naderev P PNP; Xiao, Fengxia F; Jiang, Xinyang X; Wang, San Ming SM
Publication Date: 2022-11-17

Variant appearance in text: BRCA2: 7007G>C; Arg2336Pro
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s010.xlsx, sheet 1
  • IJC-152-1159-s006.xlsx, sheet 3
  • IJC-152-1159-s002.xlsx, sheet 2
  • IJC-152-1159-s010.xlsx, sheet 6
View BVdb publication page



Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.

Communications Biology
Hakkaart, Christopher C; Pearson, John F JF; Marquart, Louise L; Dennis, Joe J; Wiggins, George A R GAR; Barnes, Daniel R DR; Robinson, Bridget A BA; Mace, Peter D PD; Aittomäki, Kristiina K; Andrulis, Irene L IL; Arun, Banu K BK; Azzollini, Jacopo J; Balmaña, Judith J; Barkardottir, Rosa B RB; Belhadj, Sami S; Berger, Lieke L; Blok, Marinus J MJ; Boonen, Susanne E SE; Borde, Julika J; Bradbury, Angela R AR; Brunet, Joan J; Buys, Saundra S SS; Caligo, Maria A MA; Campbell, Ian I; Chung, Wendy K WK; Claes, Kathleen B M KBM; , ; , ; Collonge-Rame, Marie-Agnès MA; Cook, Jackie J; Cosgrove, Casey C; Couch, Fergus J FJ; Daly, Mary B MB; Dandiker, Sita S; Davidson, Rosemarie R; de la Hoya, Miguel M; de Putter, Robin R; Delnatte, Capucine C; Dhawan, Mallika M; Diez, Orland O; Ding, Yuan Chun YC; Domchek, Susan M SM; Donaldson, Alan A; Eason, Jacqueline J; Easton, Douglas F DF; Ehrencrona, Hans H; Engel, Christoph C; Evans, D Gareth DG; Faust, Ulrike U; Feliubadaló, Lidia L; Fostira, Florentia F; Friedman, Eitan E; Frone, Megan M; Frost, Debra D; Garber, Judy J; Gayther, Simon A SA; Gehrig, Andrea A; Gesta, Paul P; Godwin, Andrew K AK; Goldgar, David E DE; Greene, Mark H MH; Hahnen, Eric E; Hake, Christopher R CR; Hamann, Ute U; Hansen, Thomas V O TVO; Hauke, Jan J; Hentschel, Julia J; Herold, Natalie N; Honisch, Ellen E; Hulick, Peter J PJ; Imyanitov, Evgeny N EN; , ; , ; , ; Isaacs, Claudine C; Izatt, Louise L; Izquierdo, Angel A; Jakubowska, Anna A; James, Paul A PA; Janavicius, Ramunas R; John, Esther M EM; Joseph, Vijai V; Karlan, Beth Y BY; Kemp, Zoe Z; Kirk, Judy J; Konstantopoulou, Irene I; Koudijs, Marco M; Kwong, Ava A; Laitman, Yael Y; Lalloo, Fiona F; Lasset, Christine C; Lautrup, Charlotte C; Lazaro, Conxi C; Legrand, Clémentine C; Leslie, Goska G; Lesueur, Fabienne F; Mai, Phuong L PL; Manoukian, Siranoush S; Mari, Véronique V; Martens, John W M JWM; McGuffog, Lesley L; Mebirouk, Noura N; Meindl, Alfons A; Miller, Austin A; Montagna, Marco M; Moserle, Lidia L; Mouret-Fourme, Emmanuelle E; Musgrave, Hannah H; Nambot, Sophie S; Nathanson, Katherine L KL; Neuhausen, Susan L SL; Nevanlinna, Heli H; Yie, Joanne Ngeow Yuen JNY; Nguyen-Dumont, Tu T; Nikitina-Zake, Liene L; Offit, Kenneth K; Olah, Edith E; Olopade, Olufunmilayo I OI; Osorio, Ana A; Ott, Claus-Eric CE; Park, Sue K SK; Parsons, Michael T MT; Pedersen, Inge Sokilde IS; Peixoto, Ana A; Perez-Segura, Pedro P; Peterlongo, Paolo P; Pocza, Timea T; Radice, Paolo P; Ramser, Juliane J; Rantala, Johanna J; Rodriguez, Gustavo C GC; Rønlund, Karina K; Rosenberg, Efraim H EH; Rossing, Maria M; Schmutzler, Rita K RK; Shah, Payal D PD; Sharif, Saba S; Sharma, Priyanka P; Side, Lucy E LE; Simard, Jacques J; Singer, Christian F CF; Snape, Katie K; Steinemann, Doris D; Stoppa-Lyonnet, Dominique D; Sutter, Christian C; Tan, Yen Yen YY; Teixeira, Manuel R MR; Teo, Soo Hwang SH; Thomassen, Mads M; Thull, Darcy L DL; Tischkowitz, Marc M; Toland, Amanda E AE; Trainer, Alison H AH; Tripathi, Vishakha V; Tung, Nadine N; van Engelen, Klaartje K; van Rensburg, Elizabeth J EJ; Vega, Ana A; Viel, Alessandra A; Walker, Lisa L; Weitzel, Jeffrey N JN; Wevers, Marike R MR; Chenevix-Trench, Georgia G; Spurdle, Amanda B AB; Antoniou, Antonis C AC; Walker, Logan C LC
Publication Date: 2022-10-06

Variant appearance in text: BRCA2: 7007G>C
PubMed Link: 36203093
Variant Present in the following documents:
  • 42003_2022_3978_MOESM4_ESM.xlsx, sheet 14
View BVdb publication page



Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.

Scientific Reports
Aljarf, Raghad R; Shen, Mengyuan M; Pires, Douglas E V DEV; Ascher, David B DB
Publication Date: 2022-06-21

Variant appearance in text: BRCA2: R2336P
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Publication Date: 2022-06-15

Variant appearance in text: BRCA2: R2336P
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance
Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM
Publication Date: 2022-09

Variant appearance in text: BRCA2: 7007G>C; Arg2336Pro; rs28897743
PubMed Link: 35595529
Variant Present in the following documents:
  • LSA-2021-01319_TableS1.xlsx, sheet 1
  • LSA-2021-01319_TableS5.xlsx, sheet 1
  • LSA-2021-01319_TableS3.xlsx, sheet 1
View BVdb publication page



Genotype-phenotype and outcome associations in patients with Fanconi anemia: The National Cancer Institute cohort.

Haematologica
Altintas, Burak B; Giri, Neelam N; McReynolds, Lisa J LJ; Best, Ana A; Alter, Blanche P BP
Publication Date: 2022-04-14

Variant appearance in text: rs28897743
PubMed Link: 35417938
Variant Present in the following documents:
  • 2021_279981_ALTINTAS_TABLES_SUPPL.xlsx, sheet 2
View BVdb publication page



Biomarker-guided targeted therapy in platinum-resistant ovarian cancer (AMBITION; KGOG 3045): a multicentre, open-label, five-arm, uncontrolled, umbrella trial.

Journal Of Gynecologic Oncology
Lee, Jung-Yun JY; Kim, Byoung-Gie BG; Kim, Jae-Weon JW; Lee, Jung Bok JB; Park, Eunhyang E; Joung, Je-Gun JG; Kim, Sunghoon S; Choi, Chel Hun CH; Kim, Hee Seung HS; ,
Publication Date: 2022-07

Variant appearance in text: BRCA2: R2336P
PubMed Link: 35320892
Variant Present in the following documents:
View BVdb publication page



Human BRCA pathogenic variants were originated during recent human history.

Life Science Alliance
Li, Jiaheng J; Zhao, Bojin B; Huang, Teng T; Qin, Zixin Z; Wang, San Ming SM
Publication Date: 2022-05

Variant appearance in text: BRCA2: R2336P
PubMed Link: 35165121
Variant Present in the following documents:
  • LSA-2021-01263_TableS5.xlsx, sheet 3
View BVdb publication page



Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer.

European Urology
Lee, Daniel J DJ; Hausler, Ryan R; Le, Anh N AN; Kelly, Gregory G; Powers, Jacquelyn J; Ding, James J; Feld, Emily E; Desai, Heena H; Morrison, Casey C; Doucette, Abigail A; Gabriel, Peter P; Genetics Center, Regeneron R; Judy, Renae L RL; Weaver, Joellen J; Kember, Rachel R; Damrauer, Scott M SM; Rader, Daniel J DJ; Domchek, Susan M SM; Narayan, Vivek V; Schwartz, Lauren E LE; Maxwell, Kara N KN
Publication Date: 2022-06

Variant appearance in text: BRCA2: R2336P
PubMed Link: 34711450
Variant Present in the following documents:
  • NIHMS1772233-supplement-Supplementary_Tables.xlsx, sheet 3
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: BRCA2: R2336P
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Case report: Antenatal diagnostic of a polymalformative syndrome due to biallelic BRCA2 mutations.

Clinical Case Reports
Anquetil, Aude A; Khung Savatovsky, Suonavy S; Gavard, Laurent L; Bazin, Anne A; Guimiot, Fabien F; Dubourg, Christele C; Mandelbrot, Laurent L; Picone, Olivier O
Publication Date: 2021-09

Variant appearance in text: BRCA2: 7007G>C
PubMed Link: 34584710
Variant Present in the following documents:
  • Main text
  • CCR3-9-e04838.pdf
View BVdb publication page



Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Bmc Medicine
Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL
Publication Date: 2021-08-18

Variant appearance in text: BRCA2: 7007G>C; Arg2336Pro
PubMed Link: 34404389
Variant Present in the following documents:
  • 12916_2021_1999_MOESM2_ESM.pdf
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: BRCA2: 7007G>C; Arg2336Pro; rs28897743
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
View BVdb publication page



Prospective high-throughput genome profiling of advanced cancers: results of the PERMED-01 clinical trial.

Genome Medicine
Bertucci, François F; Gonçalves, Anthony A; Guille, Arnaud A; Adelaïde, José J; Garnier, Séverine S; Carbuccia, Nadine N; Billon, Emilien E; Finetti, Pascal P; Sfumato, Patrick P; Monneur, Audrey A; Pécheux, Christophe C; Khran, Martin M; Brunelle, Serge S; Mescam, Lenaïg L; Thomassin-Piana, Jeanne J; Poizat, Flora F; Charafe-Jauffret, Emmanuelle E; Turrini, Olivier O; Lambaudie, Eric E; Provansal, Magali M; Extra, Jean-Marc JM; Madroszyk, Anne A; Gilabert, Marine M; Sabatier, Renaud R; Vicier, Cécile C; Mamessier, Emilie E; Chabannon, Christian C; Pakradouni, Jihane J; Viens, Patrice P; André, Fabrice F; Gravis, Gwenaelle G; Popovici, Cornel C; Birnbaum, Daniel D; Chaffanet, Max M
Publication Date: 2021-05-18

Variant appearance in text: BRCA2: Arg2336Pro
PubMed Link: 34006291
Variant Present in the following documents:
  • 13073_2021_897_MOESM3_ESM.xlsx, sheet 7
View BVdb publication page



A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays.

Npj Genomic Medicine
Biswas, Kajal K; Lipton, Gary B GB; Stauffer, Stacey S; Sullivan, Teresa T; Cleveland, Linda L; Southon, Eileen E; Reid, Susan S; Magidson, Valentin V; Iversen, Edwin S ES; Sharan, Shyam K SK
Publication Date: 2020-12-08

Variant appearance in text: BRCA2: R2336P
PubMed Link: 33293522
Variant Present in the following documents:
  • Main text
  • 41525_2020_158_MOESM1_ESM.pdf
  • 41525_2020_Article_158.pdf
View BVdb publication page



Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors.

Journal Of Translational Medicine
Li, Jiaping J; Jiang, Wei W; Wei, Jinwang J; Zhang, Jianwei J; Cai, Linbo L; Luo, Minjie M; Wang, Zhan Z; Sun, Wending W; Wang, Shengzhou S; Wang, Chen C; Dai, Chun C; Liu, Jun J; Wang, Guan G; Wang, Jiping J; Xu, Qiang Q; Deng, Yanhong Y
Publication Date: 2020-08-01

Variant appearance in text: BRCA2: R2336P
PubMed Link: 32738923
Variant Present in the following documents:
  • 12967_2020_2449_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.

Cancers
Santonocito, Concetta C; Rizza, Roberta R; Paris, Ida I; Marchis, Laura De L; Paolillo, Carmela C; Tiberi, Giordana G; Scambia, Giovanni G; Capoluongo, Ettore E
Publication Date: 2020-05-19

Variant appearance in text: BRCA2: 7007G>C; Arg2336Pro; rs28897743
PubMed Link: 32438681
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer
Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ
Publication Date: 2020

Variant appearance in text: BRCA2: 7007G>C; Arg2336Pro
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Clinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes.

Scientific Reports
De Talhouet, Solene S; Peron, Julien J; Vuilleumier, Aurelie A; Friedlaender, Alex A; Viassolo, Valeria V; Ayme, Aurélie A; Bodmer, Alexandre A; Treilleux, Isabelle I; Lang, Noemie N; Tille, Jean- Christophe JC; Chappuis, Pierre O PO; Buisson, Adrien A; Giraud, Sophie S; Lasset, Christine C; Bonadona, Valerie V; Trédan, Olivier O; Labidi-Galy, S Intidhar SI
Publication Date: 2020-04-27

Variant appearance in text: BRCA2: 7007G>C
PubMed Link: 32341426
Variant Present in the following documents:
  • 41598_2020_63759_MOESM1_ESM.pdf
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: BRCA2: R2336P
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Dines, Jennifer N JN; Shirts, Brian H BH; Slavin, Thomas P TP; Walsh, Tom T; King, Mary-Claire MC; Fowler, Douglas M DM; Pritchard, Colin C CC
Publication Date: 2020-05

Variant appearance in text: N/A
PubMed Link: 31911673
Variant Present in the following documents:
View BVdb publication page



Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Li, Hongyan H; LaDuca, Holly H; Pesaran, Tina T; Chao, Elizabeth C EC; Dolinsky, Jill S JS; Parsons, Michael M; Spurdle, Amanda B AB; Polley, Eric C EC; Shimelis, Hermela H; Hart, Steven N SN; Hu, Chunling C; Couch, Fergus J FJ; Goldgar, David E DE
Publication Date: 2020-04

Variant appearance in text: BRCA2: 7007G>C
PubMed Link: 31853058
Variant Present in the following documents:
  • 41436_2019_729_MOESM3_ESM.xls, sheet 1
View BVdb publication page



Vascular endothelium function among male carriers of BRCA 1&2 germline mutation.

Oncotarget
Witberg, Guy G; Lev, Eli E; Ber, Yaara Y; Tabachnik, Tzlil T; Sela, Sivan S; Belo, Ira I; Leshem-Lev, Dorit D; Margel, David D
Publication Date: 2019-08-20

Variant appearance in text: BRCA2: 7007G>C; R2336P
PubMed Link: 31489114
Variant Present in the following documents:
  • oncotarget-10-5041-s001.pdf
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: BRCA2: 7007G>C; R2336P
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



BART-Seq: cost-effective massively parallelized targeted sequencing for genomics, transcriptomics, and single-cell analysis.

Genome Biology
Uzbas, Fatma F; Opperer, Florian F; Sönmezer, Can C; Shaposhnikov, Dmitry D; Sass, Steffen S; Krendl, Christian C; Angerer, Philipp P; Theis, Fabian J FJ; Mueller, Nikola S NS; Drukker, Micha M
Publication Date: 2019-08-06

Variant appearance in text: BRCA2: R2336P
PubMed Link: 31387612
Variant Present in the following documents:
  • 13059_2019_1748_MOESM2_ESM.xlsx, sheet 3
  • 13059_2019_1748_MOESM2_ESM.xlsx, sheet 2
  • 13059_2019_Article_1748.pdf
  • 13059_2019_1748_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

Bmc Cancer
Tsaousis, Georgios N GN; Papadopoulou, Eirini E; Apessos, Angela A; Agiannitopoulos, Konstantinos K; Pepe, Georgia G; Kampouri, Stavroula S; Diamantopoulos, Nikolaos N; Floros, Theofanis T; Iosifidou, Rodoniki R; Katopodi, Ourania O; Koumarianou, Anna A; Markopoulos, Christos C; Papazisis, Konstantinos K; Venizelos, Vasileios V; Xanthakis, Ioannis I; Xepapadakis, Grigorios G; Banu, Eugeniu E; Eniu, Dan Tudor DT; Negru, Serban S; Stanculeanu, Dana Lucia DL; Ungureanu, Andrei A; Ozmen, Vahit V; Tansan, Sualp S; Tekinel, Mehmet M; Yalcin, Suayib S; Nasioulas, George G
Publication Date: 2019-06-03

Variant appearance in text: BRCA2: 7007G>C; Arg2336Pro; rs28897743
PubMed Link: 31159747
Variant Present in the following documents:
  • 12885_2019_5756_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Human Mutation
Parsons, Michael T MT; Tudini, Emma E; Li, Hongyan H; Hahnen, Eric E; Wappenschmidt, Barbara B; Feliubadaló, Lidia L; Aalfs, Cora M CM; Agata, Simona S; Aittomäki, Kristiina K; Alducci, Elisa E; Alonso-Cerezo, María Concepción MC; Arnold, Norbert N; Auber, Bernd B; Austin, Rachel R; Azzollini, Jacopo J; Balmaña, Judith J; Barbieri, Elena E; Bartram, Claus R CR; Blanco, Ana A; Blümcke, Britta B; Bonache, Sandra S; Bonanni, Bernardo B; Borg, Åke Å; Bortesi, Beatrice B; Brunet, Joan J; Bruzzone, Carla C; Bucksch, Karolin K; Cagnoli, Giulia G; Caldés, Trinidad T; Caliebe, Almuth A; Caligo, Maria A MA; Calvello, Mariarosaria M; Capone, Gabriele L GL; Caputo, Sandrine M SM; Carnevali, Ileana I; Carrasco, Estela E; Caux-Moncoutier, Virginie V; Cavalli, Pietro P; Cini, Giulia G; Clarke, Edward M EM; Concolino, Paola P; Cops, Elisa J EJ; Cortesi, Laura L; Couch, Fergus J FJ; Darder, Esther E; de la Hoya, Miguel M; Dean, Michael M; Debatin, Irmgard I; Del Valle, Jesús J; Delnatte, Capucine C; Derive, Nicolas N; Diez, Orland O; Ditsch, Nina N; Domchek, Susan M SM; Dutrannoy, Véronique V; Eccles, Diana M DM; Ehrencrona, Hans H; Enders, Ute U; Evans, D Gareth DG; Farra, Chantal C; Faust, Ulrike U; Felbor, Ute U; Feroce, Irene I; Fine, Miriam M; Foulkes, William D WD; Galvao, Henrique C R HCR; Gambino, Gaetana G; Gehrig, Andrea A; Gensini, Francesca F; Gerdes, Anne-Marie AM; Germani, Aldo A; Giesecke, Jutta J; Gismondi, Viviana V; Gómez, Carolina C; Gómez Garcia, Encarna B EB; González, Sara S; Grau, Elia E; Grill, Sabine S; Gross, Eva E; Guerrieri-Gonzaga, Aliana A; Guillaud-Bataille, Marine M; Gutiérrez-Enríquez, Sara S; Haaf, Thomas T; Hackmann, Karl K; Hansen, Thomas V O TVO; Harris, Marion M; Hauke, Jan J; Heinrich, Tilman T; Hellebrand, Heide H; Herold, Karen N KN; Honisch, Ellen E; Horvath, Judit J; Houdayer, Claude C; Hübbel, Verena V; Iglesias, Silvia S; Izquierdo, Angel A; James, Paul A PA; Janssen, Linda A M LAM; Jeschke, Udo U; Kaulfuß, Silke S; Keupp, Katharina K; Kiechle, Marion M; Kölbl, Alexandra A; Krieger, Sophie S; Kruse, Torben A TA; Kvist, Anders A; Lalloo, Fiona F; Larsen, Mirjam M; Lattimore, Vanessa L VL; Lautrup, Charlotte C; Ledig, Susanne S; Leinert, Elena E; Lewis, Alexandra L AL; Lim, Joanna J; Loeffler, Markus M; López-Fernández, Adrià A; Lucci-Cordisco, Emanuela E; Maass, Nicolai N; Manoukian, Siranoush S; Marabelli, Monica M; Matricardi, Laura L; Meindl, Alfons A; Michelli, Rodrigo D RD; Moghadasi, Setareh S; Moles-Fernández, Alejandro A; Montagna, Marco M; Montalban, Gemma G; Monteiro, Alvaro N AN; Montes, Eva E; Mori, Luigi L; Moserle, Lidia L; Müller, Clemens R CR; Mundhenke, Christoph C; Naldi, Nadia N; Nathanson, Katherine L KL; Navarro, Matilde M; Nevanlinna, Heli H; Nichols, Cassandra B CB; Niederacher, Dieter D; Nielsen, Henriette R HR; Ong, Kai-Ren KR; Pachter, Nicholas N; Palmero, Edenir I EI; Papi, Laura L; Pedersen, Inge Sokilde IS; Peissel, Bernard B; Perez-Segura, Pedro P; Pfeifer, Katharina K; Pineda, Marta M; Pohl-Rescigno, Esther E; Poplawski, Nicola K NK; Porfirio, Berardino B; Quante, Anne S AS; Ramser, Juliane J; Reis, Rui M RM; Revillion, Françoise F; Rhiem, Kerstin K; Riboli, Barbara B; Ritter, Julia J; Rivera, Daniela D; Rofes, Paula P; Rump, Andreas A; Salinas, Monica M; Sánchez de Abajo, Ana María AM; Schmidt, Gunnar G; Schoenwiese, Ulrike U; Seggewiß, Jochen J; Solanes, Ares A; Steinemann, Doris D; Stiller, Mathias M; Stoppa-Lyonnet, Dominique D; Sullivan, Kelly J KJ; Susman, Rachel R; Sutter, Christian C; Tavtigian, Sean V SV; Teo, Soo H SH; Teulé, Alex A; Thomassen, Mads M; Tibiletti, Maria Grazia MG; Tischkowitz, Marc M; Tognazzo, Silvia S; Toland, Amanda E AE; Tornero, Eva E; Törngren, Therese T; Torres-Esquius, Sara S; Toss, Angela A; Trainer, Alison H AH; Tucker, Katherine M KM; van Asperen, Christi J CJ; van Mackelenbergh, Marion T MT; Varesco, Liliana L; Vargas-Parra, Gardenia G; Varon, Raymonda R; Vega, Ana A; Velasco, Ángela Á; Vesper, Anne-Sophie AS; Viel, Alessandra A; Vreeswijk, Maaike P G MPG; Wagner, Sebastian A SA; Waha, Anke A; Walker, Logan C LC; Walters, Rhiannon J RJ; Wang-Gohrke, Shan S; Weber, Bernhard H F BHF; Weichert, Wilko W; Wieland, Kerstin K; Wiesmüller, Lisa L; Witzel, Isabell I; Wöckel, Achim A; Woodward, Emma R ER; Zachariae, Silke S; Zampiga, Valentina V; Zeder-Göß, Christine C; , ; Lázaro, Conxi C; De Nicolo, Arcangela A; Radice, Paolo P; Engel, Christoph C; Schmutzler, Rita K RK; Goldgar, David E DE; Spurdle, Amanda B AB
Publication Date: 2019-09

Variant appearance in text: BRCA2: 7007G>C
PubMed Link: 31131967
Variant Present in the following documents:
  • HUMU-40-1557-s001.xlsx, sheet 1
  • HUMU-40-1557-s001.xlsx, sheet 2
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Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology
Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR
Publication Date: 2019-04

Variant appearance in text: BRCA2: R2336P
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
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Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J
Publication Date: 2019-09

Variant appearance in text: BRCA2: 7007G>C; Arg2336Pro
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page



Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

International Journal Of Cancer
Bhaskaran, Shanmuga Priya SP; Chandratre, Khyati K; Gupta, Hemant H; Zhang, Li L; Wang, Xiaoyu X; Cui, Jian J; Kim, Yeong C YC; Sinha, Siddharth S; Jiang, Luhan L; Lu, Boya B; Wu, Xiaobing X; Qin, Zixin Z; Huang, Teng T; Wang, San Ming SM
Publication Date: 2019-08-15

Variant appearance in text: rs28897743
PubMed Link: 30702160
Variant Present in the following documents:
  • IJC-145-962-s005.xlsx, sheet 1
View BVdb publication page



A Bayesian framework for efficient and accurate variant prediction.

Plos One
Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH
Publication Date: 2018

Variant appearance in text: BRCA2: 7007G>C; R2336P
PubMed Link: 30212499
Variant Present in the following documents:
  • pone.0203553.s008.xlsx, sheet 2
View BVdb publication page



Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ
Publication Date: 2019-01

Variant appearance in text: BRCA2: R2336P
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



SYK expression level distinguishes control from BRCA1-mutated lymphocytes.

Cancer Management And Research
Zahavi, Tamar T; Sonnenblick, Amir A; Shimshon, Yael Y; Kadouri, Luna L; Peretz, Tamar T; Salmon, Asher Y AY; Salmon-Divon, Mali M
Publication Date: 2018

Variant appearance in text: BRCA2: R2336p
PubMed Link: 29618939
Variant Present in the following documents:
  • Main text
  • cmar-10-589.pdf
View BVdb publication page



Is there a difference in testosterone levels and its regulators in men carrying BRCA mutations?

Oncotarget
Goldberg, Hanan H; Grievink, Liat Shavit LS; Mano, Roy R; Ber, Yaara Y; Ozalbo, Rachely R; Tuval, Sivan S; Baniel, Jack J; Margel, David D
Publication Date: 2017-11-28

Variant appearance in text: BRCA2: 7007G>C; R2336P
PubMed Link: 29262604
Variant Present in the following documents:
  • Main text
  • oncotarget-08-103843.pdf
View BVdb publication page



Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations.

Biological Research
Jara, Lilian L; Morales, Sebastian S; de Mayo, Tomas T; Gonzalez-Hormazabal, Patricio P; Carrasco, Valentina V; Godoy, Raul R
Publication Date: 2017-10-06

Variant appearance in text: BRCA2: 7007G>C
PubMed Link: 28985766
Variant Present in the following documents:
  • 40659_2017_139_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

Jama Pediatrics
Meng, Linyan L; Pammi, Mohan M; Saronwala, Anirudh A; Magoulas, Pilar P; Ghazi, Andrew Ray AR; Vetrini, Francesco F; Zhang, Jing J; He, Weimin W; Dharmadhikari, Avinash V AV; Qu, Chunjing C; Ward, Patricia P; Braxton, Alicia A; Narayanan, Swetha S; Ge, Xiaoyan X; Tokita, Mari J MJ; Santiago-Sim, Teresa T; Dai, Hongzheng H; Chiang, Theodore T; Smith, Hadley H; Azamian, Mahshid S MS; Robak, Laurie L; Bostwick, Bret L BL; Schaaf, Christian P CP; Potocki, Lorraine L; Scaglia, Fernando F; Bacino, Carlos A CA; Hanchard, Neil A NA; Wangler, Michael F MF; Scott, Daryl D; Brown, Chester C; Hu, Jianhong J; Belmont, John W JW; Burrage, Lindsay C LC; Graham, Brett H BH; Sutton, Vernon Reid VR; Craigen, William J WJ; Plon, Sharon E SE; Lupski, James R JR; Beaudet, Arthur L AL; Gibbs, Richard A RA; Muzny, Donna M DM; Miller, Marcus J MJ; Wang, Xia X; Leduc, Magalie S MS; Xiao, Rui R; Liu, Pengfei P; Shaw, Chad C; Walkiewicz, Magdalena M; Bi, Weimin W; Xia, Fan F; Lee, Brendan B; Eng, Christine M CM; Yang, Yaping Y; Lalani, Seema R SR
Publication Date: 2017-12-04

Variant appearance in text: BRCA2: 7007G>C; R2336P
PubMed Link: 28973083
Variant Present in the following documents:
  • Main text
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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: BRCA2: 7007G>C; Arg2336Pro
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.

Breast Cancer Research And Treatment
Pritzlaff, Mary M; Summerour, Pia P; McFarland, Rachel R; Li, Shuwei S; Reineke, Patrick P; Dolinsky, Jill S JS; Goldgar, David E DE; Shimelis, Hermela H; Couch, Fergus J FJ; Chao, Elizabeth C EC; LaDuca, Holly H
Publication Date: 2017-02

Variant appearance in text: BRCA2: R2336P
PubMed Link: 28008555
Variant Present in the following documents:
  • Main text
  • 10549_2016_Article_4085.pdf
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Comprehensive screening of target molecules by next-generation sequencing in patients with malignant solid tumors: guiding entry into phase I clinical trials.

Molecular Cancer
Tanabe, Yuko Y; Ichikawa, Hitoshi H; Kohno, Takashi T; Yoshida, Hiroshi H; Kubo, Takashi T; Kato, Mamoru M; Iwasa, Satoru S; Ochiai, Atsushi A; Yamamoto, Noboru N; Fujiwara, Yasuhiro Y; Tamura, Kenji K
Publication Date: 2016-11-16

Variant appearance in text: BRCA2: R2336P
PubMed Link: 27852271
Variant Present in the following documents:
  • 12943_2016_553_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.

Human Mutation
Vallée, Maxime P MP; Di Sera, Tonya L TL; Nix, David A DA; Paquette, Andrew M AM; Parsons, Michael T MT; Bell, Russel R; Hoffman, Andrea A; Hogervorst, Frans B L FB; Goldgar, David E DE; Spurdle, Amanda B AB; Tavtigian, Sean V SV
Publication Date: 2016-07

Variant appearance in text: BRCA2: 7007G>C; R2336P
PubMed Link: 26913838
Variant Present in the following documents:
  • HUMU-37-627-s003.xlsx, sheet 1
  • HUMU-37-627-s001.xlsx, sheet 1
View BVdb publication page



Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biology
Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B
Publication Date: 2014-10-28

Variant appearance in text: BRCA2: R2336P
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



BRCA1 germline mutations may be associated with reduced ovarian reserve.

Fertility And Sterility
Wang, Erica T ET; Pisarska, Margareta D MD; Bresee, Catherine C; Chen, Yii-Der Ida YD; Lester, Jenny J; Afshar, Yalda Y; Alexander, Carolyn C; Karlan, Beth Y BY
Publication Date: 2014-12

Variant appearance in text: BRCA2: R2336P
PubMed Link: 25256924
Variant Present in the following documents:
  • Main text
View BVdb publication page



A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.

Biomed Research International
Karami, Fatemeh F; Mehdipour, Parvin P
Publication Date: 2013

Variant appearance in text: BRCA2: R2336P
PubMed Link: 24312913
Variant Present in the following documents:
  • Main text
  • BMRI2013-928562.pdf
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Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Finkelman, Brian S BS; Rubinstein, Wendy S WS; Friedman, Sue S; Friebel, Tara M TM; Dubitsky, Shera S; Schonberger, Niecee Singer NS; Shoretz, Rochelle R; Singer, Christian F CF; Blum, Joanne L JL; Tung, Nadine N; Olopade, Olufunmilayo I OI; Weitzel, Jeffrey N JN; Lynch, Henry T HT; Snyder, Carrie C; Garber, Judy E JE; Schildkraut, Joellen J; Daly, Mary B MB; Isaacs, Claudine C; Pichert, Gabrielle G; Neuhausen, Susan L SL; Couch, Fergus J FJ; van't Veer, Laura L; Eeles, Rosalind R; Bancroft, Elizabeth E; Evans, D Gareth DG; Ganz, Patricia A PA; Tomlinson, Gail E GE; Narod, Steven A SA; Matloff, Ellen E; Domchek, Susan S; Rebbeck, Timothy R TR
Publication Date: 2012-04-20

Variant appearance in text: BRCA2: R2336P
PubMed Link: 22430266
Variant Present in the following documents:
  • Main text
View BVdb publication page



Expression of cancer testis antigens in human BRCA-associated breast cancers: potential targets for immunoprevention?

Cancer Immunology, Immunotherapy : Cii
Adams, Sylvia S; Greeder, Luba L; Reich, Elsa E; Shao, Yongzhao Y; Fosina, Denise D; Hanson, Nicole N; Tassello, Jodie J; Singh, Baljit B; Spagnoli, Giulio C GC; Demaria, Sandra S; Jungbluth, Achim A AA
Publication Date: 2011-07

Variant appearance in text: BRCA2: R2336P
PubMed Link: 21465317
Variant Present in the following documents:
  • Main text
View BVdb publication page